{{Rsnum
|rsid=153477
|Gene=GM2A
|Chromosome=5
|position=151259848
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3618
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GM2A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 11.6 | 49.1 | 39.3
| HCB | 8.8 | 40.1 | 51.1
| JPT | 11.5 | 36.3 | 52.2
| YRI | 15.6 | 59.2 | 25.2
| ASW | 24.6 | 49.1 | 26.3
| CHB | 8.8 | 40.1 | 51.1
| CHD | 14.8 | 37.0 | 48.1
| GIH | 6.9 | 32.7 | 60.4
| LWK | 23.6 | 45.5 | 30.9
| MEX | 13.8 | 41.4 | 44.8
| MKK | 13.5 | 49.4 | 37.2
| TSI | 13.7 | 40.2 | 46.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=153477
|allele=G
|frequency=0.667
|uid=1103654257881
|type=homozygous_SNP
|hugo=GM2A
|ensembl gene=ENSG00000196743
|ensembl transcript=ENST00000357164
|sift=TOLERATED
|disease=Defects in GM2A are the cause of Tay-Sachs disease AB variant (TSD-AB) (MIM:272750); also known as GM2-gangliosidosis type AB.
}}

{{ neighbor
| rsid = 153478
| distance = 30
}}

{{GET Evidence
|gene=GM2A
|aa_change=Ile59Val
|aa_change_short=I59V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs153477
|overall_frequency_n=6516
|overall_frequency_d=10758
|overall_frequency=0.605689
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=72
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}